Blog Archives

Recently, a new gene (GMPPB), responsible for causing both LGMD type 2T and congenital muscular dystrophy (CMD), has been identified. Mutations in GMPPB lead to hypoglycosylation of α-dystroglycan.2 Approximately 40 patients with GMPPB mutations and muscular dystrophy have been reported worldwide with phenotypes equally distributed between LGMD and CMD. In this study, muscle involvement assessed … [Read more]

Biogen has submitted a marketing authorisation application (MAA) to the European Medicines Agency (EMA) for nusinersen as a treatment for SMA. New data from the clinical program for nusinersen were presented at the World Muscle Society Congress. A marketing authorisation application to the European Medicines Agency for nusinersen In a statement sent to associations of … [Read more]

Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that … [Read more]

Previous data from this team of researchers suggest that the Calpain 3 (CAPN3) gene helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca2+ release and Ca2+/calmodulin kinase II (CaMKII) signaling are attenuated. They hypothesised that calpainopathy may result from a failure to transmit loading-induced Ca2+-mediated signals, … [Read more]

Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes systemic accelerated aging in children. This syndrome is due to a mutation in the LMNA gene that leads to the production of a truncated and toxic form of lamin A called progerin. In this study supported by th AFM-Telethon, a team of French researchers … [Read more]

An international scientific meeting on the congenital forms of laminopathies was held at the end of October at the Institute of Myology, Paris. After Paris in 2014 then Barcelona in 2015, the LMNA consortium met for the 3rd time at the Institute of Myology (Paris) on October 24 and 25, 2016. Organised by Dr. G. … [Read more]

The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate … [Read more]

This observational, cross-sectional study quantified the potential presence of muscle weakness among 107 patients with generalized myasthenia gravis (gMG) and 89 healthy age- and gender-matched controls. The influence of gender, treatment intensity and disease duration on muscle strength and disease progression was also assessed. The main findings of this study show that: 1) patients with … [Read more]

PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). Complementation experiments in yeast lacking glutathione reductase glr1 show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with pryroxD1 … [Read more]